nsv4675087
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,921,288
- Description:GRCh37/hg19 16q23.2-23.3(chr16:80476611-82397606)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 6461 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 6457 SVs from 113 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675087 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 80,442,714 | 82,364,001 |
| nsv4675087 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 80,476,611 | 82,397,606 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208474 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001006824.1, VCV000815850.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208474 | Remapped | Good | NC_000016.10:g.(?_ 80442714)_(8236400 1_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 80,442,714 | 82,364,001 |
| nssv16208474 | Submitted genomic | NC_000016.9:g.(?_8 0476611)_(82397606 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 80,476,611 | 82,397,606 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208474 | GRCh37: NC_000016.9:g.(?_80476611)_(82397606_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV001006824.1, VCV000815850.1 | 1 |